Glycerol kinase deficiency presenting with hypodipsia, osmotic diuresis and severe hypernatraemia

J Inherit Metab Dis. 2005;28(6):1159-61. doi: 10.1007/s10545-005-0101-2.

Abstract

A Chinese boy with glycerol kinase deficiency is reported. His presentation with severe hypernatraemia secondary to hypodipsia and glycerol-induced osmotic diuresis is unusual and not previously described in the literature.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosomes, Human, X
  • Diuresis
  • Genetic Linkage
  • Glycerol Kinase / deficiency*
  • Humans
  • Hypernatremia / diagnosis*
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Muscles / pathology
  • Muscular Diseases / pathology
  • Mutation
  • Osmosis
  • Time Factors

Substances

  • Glycerol Kinase